基于血液学特征的广西地区育龄人群地中海贫血基因检测结果研究

Genetic distribution of thalassemia in reproductive population in Guangxi region based on hematological charateristics

目的分析不同血液学特征下地中海贫血基因检测结果,探讨血液学筛查指标对地中海贫血的诊断价值及不同血液特征下广西地区育龄人群地中海贫血基因构成情况,为广西地区地中海贫血防控策略的制定和临床指导提供科学依据。方法以广西地区育龄人群为研究对象,根据红细胞参数筛查和血红蛋白分析判读结果分组,分析不同血液学特征分组下地中海贫血基因检出率和基因分型情况。结果在155045例研究对象中,红细胞参数筛查和血红蛋白分析双阳组地中海贫血基因检出率最高,为84.22%;红细胞参数筛查和血红蛋白分析双阴组仍能检出部分地中海贫血基因携带者,检出率为9.24%,主要的基因型为-α^(3.7)/αα、α^(WS)α/αα、-α^(4.2)/αα。结论平均血红细胞体积(MCV)和平均红细胞血红蛋白含量(MCH)在地中海贫血筛查中诊断价值较高,血红蛋白A2(HbA2)对β-地中海贫血的诊断价值高于α-地中海贫血。采用联合筛查,仍存在漏诊风险,以静止型α-地中海贫血为主。

Objective To analyze the results of thalassemia gene detection under different hematological characteristics,and to explore the diagnostic value of hematological screening indicators for thalassemia and the genetic composition of thalassemia in the reproductive population of Guangxi under different blood characteristics,so as to provide scientific basis for the formulation of thalassemia prevention and control strategy and clinical guidance in Guangxi.Methods The reproductive population in Guangxi was selected as the research object,and the detection rate and genotyping of thalassemia gene were analyzed under different hematological characteristics according to the red blood cell parameter screening and hemoglobin analysis results.Results Among 155045 subjects,the detection rate of thalassemia gene in red blood cell parameter screening and hemoglobin analysis positive group was the highest,which was 84.22%.Red blood cell parameter screening and hemoglobin analysis negative group could still detect some of the thalassemia gene carriers,the detection rate was 9.24%,the main genotypes were-α^(3.7)/αα,α^(WS)α/αα,-α^(4.2)/αα.Conclusion Mean corpuscular volume(MCV)and mean corpuscular hemoglobin(MCH)had high diagnostic value in the screening of thalassaemia,and the diagnostic value of HbA2 inβ-thalassaemia was higher thanα-thalassaemia.There were still missed risks,when combined screening with red blood cell indices and hemoglobin analysis,and silentα-thalassemia was predominant.